Varaico: Literature-Extracted Genetic Variants

Gene:PPP6C
Variant:p.R264C
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PPP6C

NM_002721.5:p.R264C

Associated Papers

Genetic Characteristics of Cutaneous, Acral, and Mucosal Melanoma in Japan.

Hida T et al.

Cancer Medicine, 2024

39564955 (PubMed )
Supplement: CAM4-13-e70360-s002.xlsx › Sheet1

Melanoma genomics - will we go beyond BRAF in clinics?

Mirek J et al.

Journal of Cancer Research and Clinical Oncology, 2024

Protein phosphatase 6 activates NF-κB to confer sensitivity to MAPK pathway inhibitors in KRAS- and BRAF-mutant cancer cells.

Zhang H et al.

Science Signaling, 2024

"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.

Hadad S et al.

Acta Neuropathologica, 2023

38079020 (PubMed )
Supplement: 401_2023_2654_MOESM2_ESM.xlsx › Table_S3

Autoimmune alleles at the major histocompatibility locus modify melanoma susceptibility.

Talwar JV et al.

American Journal of Human Genetics, 2023

37339630 (PubMed )
Supplement: mmc3.pdf

Genomic Profiling of Metastatic Basal cell Carcinoma Reveals Candidate Drivers of Disease and Therapeutic Targets.

Vergara IA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2023

Whole-Exome Sequencing and cfDNA Analysis Uncover Genetic Determinants of Melanoma Therapy Response in a Real-World Setting.

Vanni I et al.

International Journal of Molecular Sciences, 2023

Identification of T Cell Receptors Targeting a Neoantigen Derived from Recurrently Mutated FGFR3.

Tate T et al.

Cancers, 2023

36831375 (PubMed )
Supplement: cancers-15-01031-s001.zip › Supplementary_Table_S1.xlsx › Table_S1

A Comprehensive Analysis of Cutaneous Melanoma Patients in Greece Based on Multi-Omic Data.

Kontogianni G et al.

Cancers, 2023

PPP6C, a serine-threonine phosphatase, regulates melanocyte differentiation and contributes to melanoma tumorigenesis through modulation of MITF activity.

Maskin CR et al.

Scientific Reports, 2022

Extracellular vesicle DNA from human melanoma tissues contains cancer-specific mutations.

Crescitelli R et al.

Frontiers in Cell and Developmental Biology, 2022

PPP6C negatively regulates oncogenic ERK signaling through dephosphorylation of MEK.

Cho E et al.

Cell Reports, 2021

Comprehensive characterization of protein-protein interactions perturbed by disease mutations.

Cheng F et al.

Nature Genetics, 2021

Quality assessment of a clinical next-generation sequencing melanoma panel within the Italian Melanoma Intergroup (IMI).

Vanni I et al.

Diagnostic Pathology, 2020

33317587 (PubMed )
Supplement: 13000_2020_1052_MOESM2_ESM.xlsx › Supplemental_Table_2

The genomic landscapes of individual melanocytes from human skin.

Tang J et al.

Nature, 2020

Design and Testing of a Custom Melanoma Next Generation Sequencing Panel for Analysis of Circulating Tumor DNA.

Diefenbach RJ et al.

Cancers, 2020

32785074 (PubMed )
Supplement: cancers-12-02228-s001.zip › TableS5PatientMutationsIdentified.xlsx › Sheet1

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM10_ESM.xlsx › Sheet1

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Drivers-not-HR

ctDNA detected by ddPCR reveals changes in tumour load in metastatic malignant melanoma treated with bevacizumab.

Forthun RB et al.

Scientific Reports, 2019

RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues.

Yizhak K et al.

Science (new York, N.y.), 2019

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b

Mutational Signature and Transcriptomic Classification Analyses as the Decisive Diagnostic Tools for a Cancer of Unknown Primary.

Bagge RO et al.

Jco Precision Oncology, 2018

Towards Personalized Medicine in Melanoma: Implementation of a Clinical Next-Generation Sequencing Panel.

de Unamuno Bustos B et al.

Scientific Reports, 2017

Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma.

Bonilla X et al.

Nature Genetics, 2016

The Genetic Evolution of Melanoma from Precursor Lesions.

Shain AH et al.

The New England Journal of Medicine, 2015

26559571 (PubMed )
Supplement: nejmoa1502583_appendix_1.pdf

Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway.

Shain AH et al.

Nature Genetics, 2015

Phosphorylation of eIF2α triggered by mTORC1 inhibition and PP6C activation is required for autophagy and is aberrant in PP6C-mutated melanoma.

Wengrod J et al.

Science Signaling, 2015

PP6C hotspot mutations in melanoma display sensitivity to Aurora kinase inhibition.

Gold HL et al.

Molecular Cancer Research : Mcr, 2014

Melanoma-associated mutations in protein phosphatase 6 cause chromosome instability and DNA damage owing to dysregulated Aurora-A.

Hammond D et al.

Journal of Cell Science, 2013

Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.

Krauthammer M et al.

Nature Genetics, 2012

A landscape of driver mutations in melanoma.

Hodis E et al.

Cell, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."